DISEASES

Disease-gene associations mined from literature

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Human genes for platelet-type bleeding disorder 20

Platelet-type bleeding disorder 20 [DOID:0111055]

A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.

Synonyms:  platelet-type bleeding disorder 20,  DOID:0111055,  platelettype bleeding disorder 20,  autosomal dominant thrombocytopenia with platelet secretion defect,  BDPLT20 ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.